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Variant : CV538253 (NM_000268.3(NF2):c.58_61delinsGT (p.Lys20fs)) Homo sapiens

Symbol: CV538253
Name: NM_000268.3(NF2):c.58_61delinsGT (p.Lys20fs)
Condition: Neurofibromatosis, type 2 [RCV000660129]
Clinical Significance: likely pathogenic
Last Evaluated: 11/01/2016
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: indel (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_000268.3:c.58_61delinsGT
NM_016418.5:c.58_61delinsGT
NM_181825.3:c.58_61delinsGT
NM_181829.3:c.58_61delinsGT
NP_861968.1:p.Lys20fs
NP_861970.1:p.Lys20fs
NP_861971.1:p.Lys20fs
NP_861546.1:p.Lys20fs
NP_861966.1:p.Lys20fs
NM_181831.3:c.58_61delinsGT
NM_181832.3:c.58_61delinsGT
NM_181833.2:c.58_61delinsGT
LRG_511t1:c.58_61delinsGT
LRG_511t2:c.58_61delinsGT
NM_181828.3:c.58_61delinsGT
NM_181830.3:c.58_61delinsGT
LRG_511:g.5501_5504delinsGT
NG_009057.1:g.5501_5504delinsGT
NC_000022.11:g.29604056_29604059delinsGT
NC_000022.10:g.30000045_30000048delinsGT
NR_156186.1:n.501_504delinsGT
LRG_511p1:p.Lys20fs
LRG_511p2:p.Lys20fs
NP_000259.1:p.Lys20fs
NP_057502.2:p.Lys20fs
NP_861969.1:p.Lys20fs
NP_861967.1:p.Lys20fs
NM_000268.3:c.58_61delAAGAinsGT
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,604,056 - 29,604,059CLINVAR
GRCh372230,000,045 - 30,000,048CLINVAR
Cytogenetic Map2222q12.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13703932
Created: 2018-08-07
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.